Linked Data
dbSNP Id:
rs2253316
gnomAD v2:
1-92161515-T-A
gnomAD v3:
1-91695958-T-A
gnomAD v4:
1-91695958-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.91695958T>A , CM000663.2:g.91695958T>A | GRCh38 |
| NC_000001.10:g.92161515T>A , CM000663.1:g.92161515T>A | GRCh37 |
| NC_000001.9:g.91934103T>A | NCBI36 |
| NG_027757.1:g.215045A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000212355.9:c.2330-179A>T MANE Select | ENSP00000212355.4:n.2330-179A>T | |
| ENST00000212355.8:c.2330-179A>T | ENSP00000212355.4:n.2330-179A>T | |
| ENST00000370399.6:c.2327-179A>T | ENSP00000359426.2:n.2327-179A>T | |
| ENST00000465892.6:c.2327-179A>T | ENSP00000432638.1:n.2327-179A>T | |
| ENST00000470600.1:n.285-179A>T | ||
| ENST00000525962.5:c.2330-179A>T | ENSP00000436127.1:n.2330-179A>T | |
| ENST00000532540.5:c.*2277-179A>T | ENSP00000434994.1:n.*2277-179A>T | |
| ENST00000533089.5:c.*2048-179A>T | ENSP00000433477.1:n.*2048-179A>T | |
| NM_001195683.1:c.2327-179A>T | NP_001182612.1:n.2327-179A>T | |
| NM_001195684.1:c.2327-179A>T | NP_001182613.1:n.2327-179A>T | |
| NM_003243.4:c.2330-179A>T | NP_003234.2:n.2330-179A>T | |
| NR_036634.1:n.2942-179A>T | ||
| XM_006710867.1:c.2330-179A>T | XP_006710930.1:n.2330-179A>T | |
| XM_006710868.1:c.2330-179A>T | XP_006710931.1:n.2330-179A>T | |
| XM_011542058.1:c.1664-179A>T | XP_011540360.1:n.1664-179A>T | |
| XM_006710867.2:c.2330-179A>T | XP_006710930.1:n.2330-179A>T | |
| NM_003243.5:c.2330-179A>T MANE Select | NP_003234.2:n.2330-179A>T | |
| NM_001195683.2:c.2327-179A>T | NP_001182612.1:n.2327-179A>T | |
| NR_036634.2:n.2814-179A>T |